Pierson Syndrome: An Update

Pierson syndrome (PS) is a rare autosomal recessive disorder, primarily characterized by (1) congenital nephrotic syndrome, (2) ocular abnormalities, and (3) neurodevelopmental deficits. It is caused by mutations in the LAMB2 gene, which encodes the laminin β2 chain-a protein subunit that is part of a specific group of proteins known as laminins. These proteins are present in the glomerular basement membrane, neuromuscular junctions, and ocular structures. Although PS exhibits a wide spectrum of phenotypic presentations, the prognosis remains poor, with most patients not surviving beyond early childhood. Despite its rarity, PS is clinically significant due to its potential to cause end-stage kidney disease early in life. This review consolidates the latest insights into the etiopathogenesis, clinical manifestations, diagnosis, treatment, and prognosis of PS.